Inglese

This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.

6 moduli  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
pht006324
Descrizione

pht006324

Alias
UMLS CUI [1,1]
C3846158
De-identified unique Sample ID
Descrizione

SAMPLE_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Cell or tissue type or subtype of sample
Descrizione

HISTOLOGICAL_TYPE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560
Tumor status
Descrizione

IS_TUMOR

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0475752
Original clone number from which cell line was expanded
Descrizione

CLONE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0205313
UMLS CUI [1,3]
C1522642
UMLS CUI [1,4]
C0007600
Passage number of cell line which was analysed
Descrizione

PASSAGE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0007600
UMLS CUI [1,3]
C0936012
Differentation protocol used for iPSC-derived samples
Descrizione

DIFFERENTIATION_PROTOCOL

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1507394
UUID Identifier for iPSC clone. If the cell is an iPSC-derived cell type, this indicates the source clone.
Descrizione

UCSD_IPSC_CLONE_ID

Tipo di dati

string

Alias
UMLS CUI [2,1]
C1710569
UMLS CUI [2,2]
C2717959
UMLS CUI [2,3]
C1522642
UMLS CUI [2,4]
C0449475
UMLS CUI [2,5]
C0449416
The technology used to generate induced pluripotent stem cells (iPSCs)
Descrizione

REPROGRAMMING_METHOD

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0039421
UMLS CUI [1,2]
C0220824
UUID Identifier for tissue sample of fibroblast, blood or iPSC
Descrizione

UCSD_SOURCE_TISSUE_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1710569
UMLS CUI [1,2]
C0016030
UMLS CUI [1,3]
C0178913
UMLS CUI [1,4]
C2717959
For differentiated samples, this indicates the differentiation replicate
Descrizione

UCSD_DIFFERENTIATION_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2945687
UMLS CUI [1,2]
C1883725
WiCell identifier assigned to iPSC line archived at WiCell Research Institute, Wisconsin, USA
Descrizione

WICELL_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0600091
UMLS CUI [1,2]
C2717959
UMLS CUI [1,3]
C0007601
Analyte Type
Descrizione

ANALYTE_TYPE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4744818
The type of assay performed for chromatin-based assays
Descrizione

CHROMATIN_ASSAY_TYPE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0005507
UMLS CUI [1,2]
C0332307
Organisation providing original sample
Descrizione

SAMPLE_SOURCE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1547541
UMLS CUI [1,2]
C1999230
Name of the center which conducted genotyping
Descrizione

GENOTYPING_CENTER

Tipo di dati

text

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1285573
Name of the center which conducted sequencing
Descrizione

SEQUENCING_CENTER

Tipo di dati

text

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
Version of array
Descrizione

ARRAY_VERSION

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C0333052
Array number and coordinates for arrays
Descrizione

ILLUMINA_ARRAY_COORDINATES

Tipo di dati

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C0237753
UMLS CUI [1,3]
C0681930
ILLUMINA_ARRAY_COORDINATES of paired germline sample for iPSC
Descrizione

MATCHED_GERMLINE_ARRAY

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0200345
UMLS CUI [1,2]
C3845275
Indicator for whether sample was part of iPSCORE resource paper (PMID 28410642)
Descrizione

SUBSTUDY_iPSCORE_RESOURCE

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0035201
UMLS CUI [1,4]
C0282420
Sample group as used in the iPSCORE resource paper
Descrizione

iPSCORE_RESOURCE_SAMPLETYPE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0441833
UMLS CUI [1,3]
C0035201
UMLS CUI [1,4]
C0282420
Indicator for whether sample was part of paper studying aberrant iPSC methylation in twins (PMID 28388429)
Descrizione

SUBSTUDY_ABERRANT_METHYLATION

Tipo di dati

float

Alias
UMLS CUI [1,1]
C0041427
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0030761
Indicator for whether sample was part of paper studying expression quantitative trait loci (eQTL) in iPSC (PMID 28388430)
Descrizione

SUBSTUDY_IPSC_EQTL

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C3826857
UMLS CUI [1,5]
C2717959
Indicator for whether sample was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
Descrizione

SUBSTUDY_IPSC_CM_NKX25

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1413784
UMLS CUI [1,5]
C1624609
UMLS CUI [1,6]
C2717959
UMLS CUI [1,7]
C0225828
Indicator for whether sample was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
Descrizione

SUBSTUDY_IPSC_CM_HIC

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0872186
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
Descrizione

SUBSTUDY_IPSC_SOMATIC

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0026882
UMLS CUI [1,5]
C2828008
UMLS CUI [1,6]
C2717959
Indicator for whether sample was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases (bioRxiv 440230; doi: https://doi.org/10.1101/440230)
Descrizione

SUBSTUDY_RPE_PILOT

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1524063
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C4540048
UMLS CUI [1,7]
C2603343
UMLS CUI [1,8]
C0017399
UMLS CUI [1,9]
C0015397
Indicator for whether sample was part of paper examining structural variation in iPSCORE
Descrizione

SUBSTUDY_IPSCORE_SV

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2717924
UMLS CUI [1,5]
C2717959
Indicator for whether sample was part of paper examining lncrnas in iPSC-CMs
Descrizione

SUBSTUDY_CM_LNCRNA

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2982391
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper examining differentiation of iPSCs to iPSC-derived cardiomyocytes or cardiovascular precursor cells (CVPC)
Descrizione

SUBSTUDY_CVPC_DIFF

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2945687
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper examining co-accessibility between ATAC sites within iPSCs
Descrizione

SUBSTUDY_IPSC_COACCESSIBILITY

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2717959
UMLS CUI [1,5]
C4744539
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Similar models

This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.

6 moduli
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht006324
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified unique Sample ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
HISTOLOGICAL_TYPE
Code List
Cell or tissue type or subtype of sample
CL Item
Blood (Blood)
CL Item
Fibroblast (Fibroblast)
CL Item
iPSC (iPSC)
CL Item
iPSC-CC (iPSC-CC)
CL Item
iPSC-CM (iPSC-CM)
CL Item
iPSC-CP (iPSC-CP)
CL Item
iPSC-CVPC (iPSC-CVPC)
CL Item
iPSC-MP (iPSC-MP)
CL Item
iPSC-RPE (iPSC-RPE)
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
IS_TUMOR
Code List
Tumor status
CL Item
No (N)
CLONE
Item
Original clone number from which cell line was expanded
string
C0237753 (UMLS CUI [1,1])
C0205313 (UMLS CUI [1,2])
C1522642 (UMLS CUI [1,3])
C0007600 (UMLS CUI [1,4])
PASSAGE
Item
Passage number of cell line which was analysed
string
C0237753 (UMLS CUI [1,1])
C0007600 (UMLS CUI [1,2])
C0936012 (UMLS CUI [1,3])
DIFFERENTIATION_PROTOCOL
Item
Differentation protocol used for iPSC-derived samples
string
C1507394 (UMLS CUI [1,1])
UCSD_IPSC_CLONE_ID
Item
UUID Identifier for iPSC clone. If the cell is an iPSC-derived cell type, this indicates the source clone.
string
C1710569 (UMLS CUI [2,1])
C2717959 (UMLS CUI [2,2])
C1522642 (UMLS CUI [2,3])
C0449475 (UMLS CUI [2,4])
C0449416 (UMLS CUI [2,5])
Item
The technology used to generate induced pluripotent stem cells (iPSCs)
string
C0039421 (UMLS CUI [1,1])
C0220824 (UMLS CUI [1,2])
REPROGRAMMING_METHOD
Code List
The technology used to generate induced pluripotent stem cells (iPSCs)
CL Item
Retrovirus (Retrovirus)
CL Item
Sendai (Sendai)
UCSD_SOURCE_TISSUE_ID
Item
UUID Identifier for tissue sample of fibroblast, blood or iPSC
string
C1710569 (UMLS CUI [1,1])
C0016030 (UMLS CUI [1,2])
C0178913 (UMLS CUI [1,3])
C2717959 (UMLS CUI [1,4])
UCSD_DIFFERENTIATION_ID
Item
For differentiated samples, this indicates the differentiation replicate
string
C2945687 (UMLS CUI [1,1])
C1883725 (UMLS CUI [1,2])
WICELL_ID
Item
WiCell identifier assigned to iPSC line archived at WiCell Research Institute, Wisconsin, USA
string
C0600091 (UMLS CUI [1,1])
C2717959 (UMLS CUI [1,2])
C0007601 (UMLS CUI [1,3])
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
ANALYTE_TYPE
Code List
Analyte Type
CL Item
DNA (DNA)
CL Item
RNA (RNA)
Item
The type of assay performed for chromatin-based assays
string
C0005507 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
CHROMATIN_ASSAY_TYPE
Code List
The type of assay performed for chromatin-based assays
CL Item
0 (0)
CL Item
ATAC (ATAC)
CL Item
CTCF (CTCF)
CL Item
ChIP-seq (ChIP-seq)
CL Item
H3K27Ac (H3K27Ac)
CL Item
H3K27Ac-Input (H3K27Ac-Input)
CL Item
Hi-C (Hi-C)
CL Item
NKX2-5 (NKX2-5)
Item
Organisation providing original sample
string
C1547541 (UMLS CUI [1,1])
C1999230 (UMLS CUI [1,2])
SAMPLE_SOURCE
Code List
Organisation providing original sample
CL Item
UCSD (UCSD)
Item
Name of the center which conducted genotyping
text
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
GENOTYPING_CENTER
Code List
Name of the center which conducted genotyping
CL Item
UC San Diego Institute for Genomic Medicine Core Facility (IGM_UCSD)
CL Item
Northwest Genomics Center (NWGC)
Item
Name of the center which conducted sequencing
text
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
SEQUENCING_CENTER
Code List
Name of the center which conducted sequencing
CL Item
UC San Diego Institute for Genomic Medicine Core Facility (IGM_UCSD)
Item
Version of array
string
C1510941 (UMLS CUI [1,1])
C0333052 (UMLS CUI [1,2])
ARRAY_VERSION
Code List
Version of array
CL Item
HumanCoreExome-12v1-1_A (HumanCoreExome-12v1-1_A)
CL Item
HumanCoreExome-24v1-0_A (HumanCoreExome-24v1-0_A)
CL Item
HumanMethylation450 BeadChip (HumanMethylation450 BeadChip)
ILLUMINA_ARRAY_COORDINATES
Item
Array number and coordinates for arrays
string
C1510941 (UMLS CUI [1,1])
C0237753 (UMLS CUI [1,2])
C0681930 (UMLS CUI [1,3])
MATCHED_GERMLINE_ARRAY
Item
ILLUMINA_ARRAY_COORDINATES of paired germline sample for iPSC
string
C0200345 (UMLS CUI [1,1])
C3845275 (UMLS CUI [1,2])
SUBSTUDY_iPSCORE_RESOURCE
Item
Indicator for whether sample was part of iPSCORE resource paper (PMID 28410642)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0035201 (UMLS CUI [1,3])
C0282420 (UMLS CUI [1,4])
Item
Sample group as used in the iPSCORE resource paper
string
C2347026 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
C0035201 (UMLS CUI [1,3])
C0282420 (UMLS CUI [1,4])
iPSCORE_RESOURCE_SAMPLETYPE
Code List
Sample group as used in the iPSCORE resource paper
CL Item
P3 (P3)
CL Item
iPSCORE_Germline (iPSCORE_Germline)
CL Item
iPSCORE_Germline, P3 (iPSCORE_Germline, P3)
CL Item
iPSCORE_iPSC (iPSCORE_iPSC)
CL Item
iPSCORE_iPSC, P3 (iPSCORE_iPSC, P3)
SUBSTUDY_ABERRANT_METHYLATION
Item
Indicator for whether sample was part of paper studying aberrant iPSC methylation in twins (PMID 28388429)
float
C0041427 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,3])
SUBSTUDY_IPSC_EQTL
Item
Indicator for whether sample was part of paper studying expression quantitative trait loci (eQTL) in iPSC (PMID 28388430)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C3826857 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_IPSC_CM_NKX25
Item
Indicator for whether sample was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1413784 (UMLS CUI [1,4])
C1624609 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
C0225828 (UMLS CUI [1,7])
SUBSTUDY_IPSC_CM_HIC
Item
Indicator for whether sample was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0872186 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_IPSC_SOMATIC
Item
Indicator for whether sample was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0026882 (UMLS CUI [1,4])
C2828008 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
SUBSTUDY_RPE_PILOT
Item
Indicator for whether sample was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases (bioRxiv 440230; doi: https://doi.org/10.1101/440230)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1524063 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C4540048 (UMLS CUI [1,6])
C2603343 (UMLS CUI [1,7])
C0017399 (UMLS CUI [1,8])
C0015397 (UMLS CUI [1,9])
SUBSTUDY_IPSCORE_SV
Item
Indicator for whether sample was part of paper examining structural variation in iPSCORE
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2717924 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_CM_LNCRNA
Item
Indicator for whether sample was part of paper examining lncrnas in iPSC-CMs
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2982391 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_CVPC_DIFF
Item
Indicator for whether sample was part of paper examining differentiation of iPSCs to iPSC-derived cardiomyocytes or cardiovascular precursor cells (CVPC)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2945687 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_IPSC_COACCESSIBILITY
Item
Indicator for whether sample was part of paper examining co-accessibility between ATAC sites within iPSCs
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2717959 (UMLS CUI [1,4])
C4744539 (UMLS CUI [1,5])
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